MPS3D
MCID: MCP046
MIFTS: 51

Mucopolysaccharidosis, Type Iiid (MPS3D)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Mucopolysaccharidosis, Type Iiid

MalaCards integrated aliases for Mucopolysaccharidosis, Type Iiid:

Name: Mucopolysaccharidosis, Type Iiid 56 39
Mucopolysaccharidosis Type Iiid 56 12 52 58 73 13 15
Mps Iiid 56 12 52 73 54
Mps3d 56 12 52 58 73
N-Acetylglucosamine-6-Sulfatase Deficiency 56 12 73
Mucopolysaccharidosis Type 3d 12 52 58
Sanfilippo Syndrome Type D 12 52 58
Sanfilippo Syndrome D 56 12 52
Gns Deficiency 12 52 58
Glucosamine N-Acetyl-6-Sulfatase Deficiency 52 58
Mpsiiid 52 58
N-Acetylglucosamine-6-Sulfate Sulfatase Deficiency 52
Mucopoly-Saccharidosis Type 3d 52
Mucopolysaccharidosis 3d 73
Sanfilippo D Syndrome 73
Mps Iii-D 74
Mps Iii D 71
Mps 3d 52

Characteristics:

Orphanet epidemiological data:

58
sanfilippo syndrome type d
Inheritance: Autosomal recessive;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
four clinically indistinguishable biochemically distinct forms (see )


HPO:

31
mucopolysaccharidosis, type iiid:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare bone diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


Summaries for Mucopolysaccharidosis, Type Iiid

NIH Rare Diseases : 52 Mucopolysaccharidosis type IIID (MPS IIID) is an genetic disorder that makes the body unable to break down large sugar molecules called glycosaminoglycans (GAGs, formerly called mucopolysaccharides). Specifically, people with this condition are unable to break down a GAG called heparan sulfate. Affected individuals can have severe neurological symptoms, including progressive dementia , aggressive behavior, hyperactivity, seizures , deafness, loss of vision, and an inability to sleep for more than a few hours at a time. MPS IIID is caused by the missing or deficient enzyme N -acetylglucosamine 6-sulfatase. MPS IIID is inherited in an autosomal recessive manner. There is no specific treatment for this condition. Most people with MPS IIID live into their teenage years, and some live longer.

MalaCards based summary : Mucopolysaccharidosis, Type Iiid, also known as mucopolysaccharidosis type iiid, is related to mucopolysaccharidoses and mucopolysaccharidosis iii, and has symptoms including seizures, joint stiffness and diarrhea. An important gene associated with Mucopolysaccharidosis, Type Iiid is GNS (Glucosamine (N-Acetyl)-6-Sulfatase), and among its related pathways/superpathways are Metabolism and Glycosaminoglycan metabolism. Affiliated tissues include brain, spinal cord and eye, and related phenotypes are coarse facial features and hearing impairment

Disease Ontology : 12 A mucopolysaccharidosis III that has material basis in homozygous or compound heterozygous mutation in GNS on chromosome 12q14.3.

OMIM : 56 The mucopolysaccharidoses are a family of lysosomal storage diseases caused by deficiencies of enzymes required for the catabolism of glycosaminoglycans. The defects result in accumulation of excessive intralysosomal glycosoaminoglycans (mucopolysaccharides) in various tissues, causing distended lysosomes to accumulate in the cell and interfere with cell function. Multiple types have been described (Mok et al., 2003). (252940)

UniProtKB/Swiss-Prot : 73 Mucopolysaccharidosis 3D: A form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life.

Wikipedia : 74 Sanfilippo syndrome, also known as mucopolysaccharidosis type III (MPS III), is a rare autosomal... more...

Related Diseases for Mucopolysaccharidosis, Type Iiid

Diseases in the Mucopolysaccharidosis-Plus Syndrome family:

Mucopolysaccharidosis, Type Iiia Mucopolysaccharidosis, Type Iiib
Mucopolysaccharidosis, Type Iiic Mucopolysaccharidosis, Type Iiid
Mucopolysaccharidosis, Type Iva Mucopolysaccharidosis, Type Ivb
Mucopolysaccharidosis, Type Vi Mucopolysaccharidosis, Type Vii
Mucopolysaccharidosis, Type Ii Mucopolysaccharidosis, Type Ix
Mucopolysaccharidosis Iii Mucopolysaccharidosis Iv

Diseases related to Mucopolysaccharidosis, Type Iiid via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 38)
# Related Disease Score Top Affiliating Genes
1 mucopolysaccharidoses 29.6 NAGLU IDUA ARSH ARSB
2 mucopolysaccharidosis iii 29.1 SUMF1 SGSH NAGLU IDUA IDS HGSNAT
3 mucopolysaccharidosis-plus syndrome 27.1 SUMF1 SGSH NAGLU IDUA IDS HGSNAT
4 lysosomal storage disease 26.7 SUMF1 SGSH NAGLU IDUA IDS HGSNAT
5 mucopolysaccharidosis, type ix 10.2 NAGLU HGSNAT
6 mongolian spot 10.1 NAGLU IDUA
7 dysphagia 10.1
8 kluver-bucy syndrome 10.0 SGSH NAGLU HGSNAT
9 morquio syndrome 10.0 GALNS ARSH
10 glycoproteinosis 10.0 GALNS ARSH
11 spondyloepiphyseal dysplasia with congenital joint dislocations 10.0 GALNS ARSH
12 krabbe disease 10.0 IDUA ARSH
13 ichthyosis, x-linked 9.9 SUMF1 ARSH
14 tay-sachs disease 9.8 IDUA ARSH
15 galactosialidosis 9.8 IDUA GALNS ARSH
16 gm1 gangliosidosis 9.8 IDUA GALNS ARSH
17 mucolipidosis 9.7 SUMF1 GALNS ARSH
18 gaucher disease, type i 9.7 IDUA ARSH
19 gm1-gangliosidosis, type ii 9.7 IDS GALNS
20 x-linked chondrodysplasia punctata 1 9.7 SUMF1 IDS
21 fucosidosis 9.6 NAGLU IDUA GALNS ARSH
22 sphingolipidosis 9.6 SGSH IDUA GALNS ARSH
23 hydrocephalus 9.4 SUMF1 ARSH ARSB
24 leukodystrophy 9.4 SUMF1 IDUA ARSH ARSB
25 hurler-scheie syndrome 9.2 SUMF1 SGSH NAGLU IDUA GALNS
26 metachromatic leukodystrophy 8.8 SUMF1 SGSH IDUA GALNS ARSH ARSB
27 hurler syndrome 8.6 NAGLU IDUA IDS GALNS ARSH ARSB
28 multiple sulfatase deficiency 8.3 SUMF1 SGSH IDS GNS GALNS ARSH
29 mucopolysaccharidosis, type vii 8.2 SGSH NAGLU IDUA IDS HGSNAT GALNS
30 mucopolysaccharidosis, type ivb 8.0 SGSH NAGLU IDUA IDS HGSNAT GNS
31 mucopolysaccharidosis, type iiic 8.0 SGSH NAGLU IDUA IDS HGSNAT GNS
32 mucopolysaccharidosis, type vi 7.8 SUMF1 SGSH NAGLU IDUA IDS GNS
33 mucopolysaccharidosis iv 7.8 SUMF1 SGSH NAGLU IDUA IDS GNS
34 mucopolysaccharidosis, type iva 7.8 SUMF1 SGSH NAGLU IDUA IDS GNS
35 mucopolysaccharidosis, type ii 7.6 SUMF1 SGSH NAGLU IDUA IDS HGSNAT
36 scheie syndrome 7.6 SUMF1 SGSH NAGLU IDUA IDS HGSNAT
37 mucopolysaccharidosis, type iiib 7.6 SUMF1 SGSH NAGLU IDUA IDS HGSNAT
38 mucopolysaccharidosis, type iiia 7.6 SUMF1 SGSH NAGLU IDUA IDS HGSNAT

Graphical network of the top 20 diseases related to Mucopolysaccharidosis, Type Iiid:



Diseases related to Mucopolysaccharidosis, Type Iiid

Symptoms & Phenotypes for Mucopolysaccharidosis, Type Iiid

Human phenotypes related to Mucopolysaccharidosis, Type Iiid:

31 (show all 35)
# Description HPO Frequency HPO Source Accession
1 coarse facial features 31 HP:0000280
2 hearing impairment 31 HP:0000365
3 intellectual disability 31 HP:0001249
4 splenomegaly 31 HP:0001744
5 hepatomegaly 31 HP:0002240
6 depressed nasal bridge 31 HP:0005280
7 short neck 31 HP:0000470
8 joint stiffness 31 HP:0001387
9 sleep disturbance 31 HP:0002360
10 anteverted nares 31 HP:0000463
11 thick eyebrow 31 HP:0000574
12 coarse hair 31 HP:0002208
13 flexion contracture 31 HP:0001371
14 dysostosis multiplex 31 HP:0000943
15 prominent forehead 31 HP:0011220
16 dysphagia 31 HP:0002015
17 thick lower lip vermilion 31 HP:0000179
18 recurrent upper respiratory tract infections 31 HP:0002788
19 frontal bossing 31 HP:0002007
20 absent speech 31 HP:0001344
21 low-set ears 31 HP:0000369
22 wide mouth 31 HP:0000154
23 dysarthria 31 HP:0001260
24 synophrys 31 HP:0000664
25 diarrhea 31 HP:0002014
26 heparan sulfate excretion in urine 31 HP:0002159
27 hirsutism 31 HP:0001007
28 hyperactivity 31 HP:0000752
29 drooling 31 HP:0002307
30 ovoid thoracolumbar vertebrae 31 HP:0003309
31 thickened ribs 31 HP:0000900
32 growth abnormality 31 HP:0001507
33 seizure 31 HP:0001250
34 asymmetric septal hypertrophy 31 HP:0001670
35 cellular metachromasia 31 HP:0003653

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Face:
coarse facial features
prominent forehead

Neurologic Central Nervous System:
seizures
dysarthria
hyperactivity
mental retardation
slowing mental development by 1.5 to 3 years of age
more
Skin Nails Hair Hair:
coarse hair
synophrys
hirsutism
thick eyebrows

Head And Neck Ears:
low-set ears
hearing loss

Head And Neck Eyes:
synophrys
decreased vision
clear corneas

Skeletal Spine:
ovoid thoracolumbar vertebrae

Skeletal:
joint contractures
dysotosis multiplex, mild

Chest Ribs Sternum Clavicles And Scapulae:
thick ribs

Abdomen Liver:
hepatomegaly, mild

Skeletal Limbs:
joint stiffness, mild

Head And Neck Neck:
short neck

Head And Neck Nose:
anteverted nares
flat nasal bridge

Abdomen Gastrointestinal:
dysphagia
diarrhea
drooling

Head And Neck Mouth:
wide mouth
drooling
thick lips

Laboratory Abnormalities:
heparan sulfate excretion in urine
metachromasia of white blood cells and fibroblasts
n-acetylglucosamine-6-sulfate sulfatase deficiency

Cardiovascular Heart:
asymmetric septal hypertrophy

Growth Height:
normal stature

Respiratory Nasopharynx:
frequent upper respiratory tract infections

Abdomen Spleen:
splenomegaly, mild

Neurologic Behavioral Psychiatric Manifestations:
behavioral problems, severe, beginning at 3 to 4 years of age

Clinical features from OMIM:

252940

UMLS symptoms related to Mucopolysaccharidosis, Type Iiid:


seizures, joint stiffness, diarrhea

GenomeRNAi Phenotypes related to Mucopolysaccharidosis, Type Iiid according to GeneCards Suite gene sharing:

26 (show all 20)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.64 ARSB
2 Increased shRNA abundance (Z-score > 2) GR00366-A-110 9.64 ARSB
3 Increased shRNA abundance (Z-score > 2) GR00366-A-111 9.64 GALNS
4 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.64 ARSB
5 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.64 ARSB
6 Increased shRNA abundance (Z-score > 2) GR00366-A-14 9.64 IDS
7 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.64 GALNS
8 Increased shRNA abundance (Z-score > 2) GR00366-A-180 9.64 IDS
9 Increased shRNA abundance (Z-score > 2) GR00366-A-183 9.64 GALNS
10 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.64 GALNS
11 Increased shRNA abundance (Z-score > 2) GR00366-A-200 9.64 IDS
12 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.64 GALNS
13 Increased shRNA abundance (Z-score > 2) GR00366-A-27 9.64 ARSB
14 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.64 ARSB
15 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.64 IDS
16 Increased shRNA abundance (Z-score > 2) GR00366-A-48 9.64 IDS
17 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.64 GALNS
18 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.64 GALNS
19 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.64 GALNS IDS
20 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.64 IDS

MGI Mouse Phenotypes related to Mucopolysaccharidosis, Type Iiid:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.13 ARSB GALNS GNS HGSNAT IDS IDUA
2 behavior/neurological MP:0005386 10.1 ARSB GNS HGSNAT IDS IDUA NAGLU
3 growth/size/body region MP:0005378 10.03 ARSB CENPO HGSNAT IDS IDUA NAGLU
4 hematopoietic system MP:0005397 10.01 ARSB GNS HGSNAT IDS IDUA NAGLU
5 craniofacial MP:0005382 9.93 ARSB IDS IDUA NAGLU SGSH SUMF1
6 nervous system MP:0003631 9.86 ARSB GNS HGSNAT IDS IDUA NAGLU
7 limbs/digits/tail MP:0005371 9.85 ARSB HGSNAT IDS IDUA SGSH SUMF1
8 liver/biliary system MP:0005370 9.8 HGSNAT IDS IDUA NAGLU SGSH SUMF1
9 renal/urinary system MP:0005367 9.7 ARSB GALNS HGSNAT IDS IDUA NAGLU
10 skeleton MP:0005390 9.56 ARSB GALNS HGSNAT IDS IDUA NAGLU
11 vision/eye MP:0005391 9.1 ARSB GALNS IDS IDUA NAGLU SGSH

Drugs & Therapeutics for Mucopolysaccharidosis, Type Iiid

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Biomarker for Sanfilippo Disease Type A-B-C-D AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not recruiting NCT02298686

Search NIH Clinical Center for Mucopolysaccharidosis, Type Iiid

Genetic Tests for Mucopolysaccharidosis, Type Iiid

Anatomical Context for Mucopolysaccharidosis, Type Iiid

MalaCards organs/tissues related to Mucopolysaccharidosis, Type Iiid:

40
Brain, Spinal Cord, Eye, Bone

Publications for Mucopolysaccharidosis, Type Iiid

Articles related to Mucopolysaccharidosis, Type Iiid:

(show all 28)
# Title Authors PMID Year
1
A novel loss-of-function mutation in the GNS gene causes Sanfilippo syndrome type D. 61 54 6 56
19650410 2009
2
Sanfilippo syndrome type D: natural history and identification of 3 novel mutations in the GNS Gene. 54 56 6 61
17998446 2007
3
Genomic basis of mucopolysaccharidosis type IIID (MIM 252940) revealed by sequencing of GNS encoding N-acetylglucosamine-6-sulfatase. 61 54 6 56
12573255 2003
4
Sanfilippo syndrome type D: identification of the first mutation in the N-acetylglucosamine-6-sulphatase gene. 61 6 56
12624138 2003
5
Sanfilippo syndrome type D. 6 56
3100754 1987
6
Sanfilippo disease type D: deficiency of N-acetylglucosamine-6-sulfate sulfatase required for heparan sulfate degradation. 6 56
6450420 1980
7
Mucopolysaccharidosis Type III 6
31536183 2019
8
N-acetylglucosamine 6-sulphatase deficiency in a Nubian goat: a model of Sanfilippo syndrome type D (mucopolysaccharidosis IIID). 56
1434515 1992
9
Sanfilippo syndrome type D in two adolescent sisters. 56
1908010 1991
10
Clinical heterogeneity in Sanfilippo disease (mucopolysaccharidosis III) type D: presentation of two new cases. 56
6411475 1983
11
Sanfilippo type D disease: clinical findings in two patients with a new variant of mucopolysaccharidosis III. 56
6807676 1982
12
Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations. 61 54
20232353 2010
13
Disease correction by AAV-mediated gene therapy in a new mouse model of mucopolysaccharidosis type IIID. 61
28334745 2017
14
Diagnosis of caprine mucopolysaccharidosis type IIID by real-time polymerase chain reaction-based genotyping. 61
20622237 2010
15
Metabolic studies of glycosphingolipid accumulation in mucopolysaccharidosis IIID. 61
11243730 2001
16
Caprine mucopolysaccharidosis IIID: a preliminary trial of enzyme replacement therapy. 61
11303788 2000
17
Recombinant caprine 3H-[N-acetylglucosamine-6-sulfatase] and human 3H-[N-acetylgalactosamine-4-sulfatase]: plasma clearance, tissue distribution, and cellular uptake in the rat. 54
10344792 1998
18
Caprine mucopolysaccharidosis-IIID: clinical, biochemical, morphological and immunohistochemical characteristics. 54
9600207 1998
19
Expression, purification and characterization of recombinant caprine N-acetylglucosamine-6-sulphatase. 61
9355739 1997
20
A cDNA clone for human glucosamine-6-sulphatase reveals differences between arylsulphatases and non-arylsulphatases. 61
1463457 1992
21
Sanfilippo D syndrome: correction of glucosamine-6-sulphatase deficiency following fibroblast culture in Chang's media. 61
1788178 1991
22
Sanfilippo D syndrome: estimation of N-acetylglucosamine-6-sulfatase activity with a radiolabeled monosulfated disaccharide substrate. 61
2500866 1989
23
Human glucosamine-6-sulfatase cDNA reveals homology with steroid sulfatase. 61
3196333 1988
24
Chromosomal localization of the gene for human glucosamine-6-sulphatase to 12q14. 61
3391615 1988
25
Urinary excretion of sulphated N-acetylhexosamines in patients with various mucopolysaccharidoses. 61
3931626 1985
26
Detection of the Sanfilippo D syndrome by the use of a radiolabeled monosaccharide sulfate as the substrate for the estimation of N-acetylglucosamine-6-sulfate sulfatase. 61
6428270 1984
27
Isolation and characterization of N-acetylglucosamine 6-sulfate from the urine of a patient with Sanfilippo type D syndrome and its occurrence in normal urine. 61
6435628 1983
28
N-acetylglucosamine 6-sulfate residues in keratan sulfate and heparan sulfate are desulfated by the same enzyme. 61
6236815 1983

Variations for Mucopolysaccharidosis, Type Iiid

ClinVar genetic disease variations for Mucopolysaccharidosis, Type Iiid:

6 (show top 50) (show all 108) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GNS NM_002076.4(GNS):c.814C>T (p.Gln272Ter)SNV Pathogenic 638094 12:65134447-65134447 12:64740667-64740667
2 GNS NC_000012.12:g.(?_64739371)_(64747928_?)deldeletion Pathogenic 831424 12:65133151-65141708
3 GNS NM_002076.4(GNS):c.1063C>T (p.Arg355Ter)SNV Pathogenic 2932 rs119461974 12:65130819-65130819 12:64737039-64737039
4 GNS NM_002076.4(GNS):c.1169del (p.Gln390fs)deletion Pathogenic 2933 rs483352898 12:65122767-65122767 12:64728987-64728987
5 GNS NM_002076.4(GNS):c.1168C>T (p.Gln390Ter)SNV Pathogenic 2934 rs119461975 12:65122768-65122768 12:64728988-64728988
6 GNS NM_002076.4(GNS):c.1138_1139insGTCCT (p.Asp380fs)insertion Pathogenic 2935 rs483352899 12:65122797-65122798 12:64729017-64729018
7 GNS NM_002076.4(GNS):c.1226dup (p.Ser410fs)duplication Pathogenic 2936 rs483352900 12:65116867-65116868 12:64723087-64723088
8 GNS NC_000012.12:g.(?_64716721)_(64723133_?)deldeletion Likely pathogenic 832892 12:65110501-65116913
9 GNS NM_002076.4(GNS):c.1308+2T>CSNV Likely pathogenic 842217 12:65116784-65116784 12:64723004-64723004
10 GNS NM_002076.4(GNS):c.1453C>G (p.Pro485Ala)SNV Conflicting interpretations of pathogenicity 424252 rs138790252 12:65113929-65113929 12:64720149-64720149
11 GNS NM_002076.4(GNS):c.577C>T (p.Arg193Trp)SNV Conflicting interpretations of pathogenicity 724833 12:65138636-65138636 12:64744856-64744856
12 GNS NM_002076.4(GNS):c.4C>T (p.Arg2Trp)SNV Conflicting interpretations of pathogenicity 193221 rs200441930 12:65153053-65153053 12:64759273-64759273
13 GNS NM_002076.4(GNS):c.1434C>G (p.Val478=)SNV Conflicting interpretations of pathogenicity 310206 rs141958901 12:65113948-65113948 12:64720168-64720168
14 GNS NM_002076.4(GNS):c.285A>G (p.Arg95=)SNV Conflicting interpretations of pathogenicity 310211 rs545765198 12:65141666-65141666 12:64747886-64747886
15 GNS NM_002076.4(GNS):c.624+10A>GSNV Conflicting interpretations of pathogenicity 310208 rs757526895 12:65138579-65138579 12:64744799-64744799
16 GNS NM_002076.4(GNS):c.73G>A (p.Ala25Thr)SNV Uncertain significance 310212 rs540537083 12:65152984-65152984 12:64759204-64759204
17 GNS NM_002076.4(GNS):c.1153G>A (p.Asp385Asn)SNV Uncertain significance 310207 rs138335335 12:65122783-65122783 12:64729003-64729003
18 GNS NM_002076.4(GNS):c.*826G>ASNV Uncertain significance 310189 rs886049766 12:65109695-65109695 12:64715915-64715915
19 GNS NM_002076.4(GNS):c.*334C>TSNV Uncertain significance 310200 rs886049771 12:65110187-65110187 12:64716407-64716407
20 GNS NM_002076.4(GNS):c.*2783C>TSNV Uncertain significance 310166 rs573404754 12:65107738-65107738 12:64713958-64713958
21 GNS NM_002076.4(GNS):c.*2447G>ASNV Uncertain significance 310174 rs567930294 12:65108074-65108074 12:64714294-64714294
22 GNS NM_002076.4(GNS):c.*1580A>GSNV Uncertain significance 310182 rs886049764 12:65108941-65108941 12:64715161-64715161
23 GNS NM_002076.4(GNS):c.*1759A>GSNV Uncertain significance 310179 rs540594590 12:65108762-65108762 12:64714982-64714982
24 GNS NM_002076.4(GNS):c.*1681C>GSNV Uncertain significance 310180 rs142676698 12:65108840-65108840 12:64715060-64715060
25 GNS NM_002076.4(GNS):c.*357T>CSNV Uncertain significance 310199 rs554471490 12:65110164-65110164 12:64716384-64716384
26 GNS NM_002076.4(GNS):c.*152G>ASNV Uncertain significance 310203 rs768957003 12:65110369-65110369 12:64716589-64716589
27 GNS NM_002076.4(GNS):c.*37G>TSNV Uncertain significance 310204 rs142001509 12:65110484-65110484 12:64716704-64716704
28 GNS NM_002076.4(GNS):c.337A>G (p.Thr113Ala)SNV Uncertain significance 310210 rs886049772 12:65141614-65141614 12:64747834-64747834
29 GNS NM_002076.4(GNS):c.*846C>TSNV Uncertain significance 310188 rs886049765 12:65109675-65109675 12:64715895-64715895
30 GNS NM_002076.4(GNS):c.*764G>ASNV Uncertain significance 310190 rs886049767 12:65109757-65109757 12:64715977-64715977
31 GNS NM_002076.4(GNS):c.*676A>GSNV Uncertain significance 310192 rs886049769 12:65109845-65109845 12:64716065-64716065
32 GNS NM_002076.4(GNS):c.*425G>ASNV Uncertain significance 310196 rs141736156 12:65110096-65110096 12:64716316-64716316
33 GNS NM_002076.4(GNS):c.-120A>GSNV Uncertain significance 310214 rs778270030 12:65153176-65153176 12:64759396-64759396
34 GNS NM_002076.4(GNS):c.*2032T>ASNV Uncertain significance 310176 rs886049763 12:65108489-65108489 12:64714709-64714709
35 GNS NM_002076.4(GNS):c.*2699G>CSNV Uncertain significance 310170 rs867153534 12:65107822-65107822 12:64714042-64714042
36 GNS NM_002076.4(GNS):c.*699G>CSNV Uncertain significance 882584 12:65109822-65109822 12:64716042-64716042
37 GNS NM_002076.4(GNS):c.*86A>TSNV Uncertain significance 883372 12:65110435-65110435 12:64716655-64716655
38 GNS NM_002076.4(GNS):c.*71T>CSNV Uncertain significance 881006 12:65110450-65110450 12:64716670-64716670
39 GNS NM_002076.4(GNS):c.1616G>A (p.Arg539His)SNV Uncertain significance 881007 12:65110564-65110564 12:64716784-64716784
40 GNS NM_002076.4(GNS):c.1261C>T (p.Arg421Cys)SNV Uncertain significance 881008 12:65116833-65116833 12:64723053-64723053
41 GNS NM_002076.4(GNS):c.1104G>T (p.Leu368=)SNV Uncertain significance 882363 12:65122832-65122832 12:64729052-64729052
42 GNS NM_002076.4(GNS):c.939T>G (p.Thr313=)SNV Uncertain significance 882364 12:65133216-65133216 12:64739436-64739436
43 GNS NM_002076.4(GNS):c.229A>G (p.Met77Val)SNV Uncertain significance 882636 12:65146501-65146501 12:64752721-64752721
44 GNS NM_002076.4(GNS):c.16C>G (p.Leu6Val)SNV Uncertain significance 882637 12:65153041-65153041 12:64759261-64759261
45 GNS NM_002076.4(GNS):c.5G>C (p.Arg2Pro)SNV Uncertain significance 883408 12:65153052-65153052 12:64759272-64759272
46 GNS NM_002076.4(GNS):c.-83G>CSNV Uncertain significance 883409 12:65153139-65153139 12:64759359-64759359
47 GNS NM_002076.4(GNS):c.876-13T>CSNV Uncertain significance 882365 12:65133292-65133292 12:64739512-64739512
48 GNS NM_002076.4(GNS):c.*2843C>TSNV Uncertain significance 310164 rs577545481 12:65107678-65107678 12:64713898-64713898
49 GNS NM_002076.4(GNS):c.*2740G>ASNV Uncertain significance 310168 rs886049761 12:65107781-65107781 12:64714001-64714001
50 GNS NM_002076.4(GNS):c.*2735C>TSNV Uncertain significance 310169 rs143396704 12:65107786-65107786 12:64714006-64714006

UniProtKB/Swiss-Prot genetic disease variations for Mucopolysaccharidosis, Type Iiid:

73
# Symbol AA change Variation ID SNP ID
1 GNS p.Ser94Ile VAR_064070
2 GNS p.Lys340Arg VAR_064072
3 GNS p.Gly418Glu VAR_064073

Expression for Mucopolysaccharidosis, Type Iiid

Search GEO for disease gene expression data for Mucopolysaccharidosis, Type Iiid.

Pathways for Mucopolysaccharidosis, Type Iiid

Pathways related to Mucopolysaccharidosis, Type Iiid according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.67 SUMF1 SGSH NAGLU IDUA IDS HGSNAT
2
Show member pathways
12.38 SGSH NAGLU IDUA IDS GNS ARSB
3
Show member pathways
12.16 SGSH NAGLU IDUA IDS ARSB
4
Show member pathways
11.98 SUMF1 ARSH ARSB
5
Show member pathways
11.58 SUMF1 ARSH ARSB
6 11.38 SUMF1 SGSH NAGLU IDUA IDS HGSNAT
7
Show member pathways
10.86 SGSH NAGLU IDUA IDS HGSNAT GNS

GO Terms for Mucopolysaccharidosis, Type Iiid

Cellular components related to Mucopolysaccharidosis, Type Iiid according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.73 SGSH NAGLU IDUA GNS GALNS ARSB
2 lysosome GO:0005764 9.56 SGSH NAGLU IDUA IDS HGSNAT GNS
3 endoplasmic reticulum lumen GO:0005788 9.5 SUMF1 ARSH ARSB
4 azurophil granule lumen GO:0035578 9.33 GNS GALNS ARSB
5 lysosomal lumen GO:0043202 9.17 SGSH NAGLU IDUA IDS GNS GALNS

Biological processes related to Mucopolysaccharidosis, Type Iiid according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.67 HGSNAT GNS GALNS ARSB
2 lysosome organization GO:0007040 9.4 NAGLU ARSB
3 lysosomal transport GO:0007041 9.32 HGSNAT ARSB
4 glycosaminoglycan metabolic process GO:0030203 9.26 SGSH GNS
5 keratan sulfate catabolic process GO:0042340 9.16 GNS GALNS
6 chondroitin sulfate catabolic process GO:0030207 9.13 IDUA IDS ARSB
7 glycosaminoglycan catabolic process GO:0006027 9.1 SGSH NAGLU IDUA IDS HGSNAT GNS

Molecular functions related to Mucopolysaccharidosis, Type Iiid according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.86 SGSH NAGLU IDUA IDS GNS GALNS
2 catalytic activity GO:0003824 9.63 SGSH IDS GNS GALNS ARSH ARSB
3 glycosaminoglycan binding GO:0005539 9.4 SGSH GNS
4 N-acetylglucosamine-6-sulfatase activity GO:0008449 9.37 SGSH GNS
5 N-acetylgalactosamine-4-sulfatase activity GO:0003943 9.32 GALNS ARSB
6 arylsulfatase activity GO:0004065 9.13 GALNS ARSH ARSB
7 sulfuric ester hydrolase activity GO:0008484 9.1 SGSH IDS GNS GALNS ARSH ARSB

Sources for Mucopolysaccharidosis, Type Iiid

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....